ClinVar

NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg)

Genes:

DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31546526 (on Assembly GRCh38)
• Chr18: 29126489 (on Assembly GRCh37)

Preferred name:

NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg)

HGVS:

• NC_000018.10:g.31546526C>G
• NG_007072.3:g.53285C>G
• NM_001943.5:c.3140C>GMANE SELECT
• NP_001934.2:p.Thr1047Arg
• LRG_397t1:c.3140C>G
• LRG_397:g.53285C>G
• NC_000018.9:g.29126489C>G
• NM_001943.3:c.3140C>G
• c.3140C>G

This HGVS expression did not pass validation

Protein change:

T1047R

Links:

dbSNP: rs397516707

NCBI 1000 Genomes Browser:

rs397516707

Molecular consequence:

• NM_001943.5:c.3140C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1